Figure 3. Breakpoint sequence of the homozygous deletion at the SPATA7 locus. Electropherogram of the breakpoint sequence was obtained from PCR amplification covering the deletion. The deletion allele sequence is given in red, and the left and right junction sequences are indicated by black and gray letters. While the centromeric junction of the deletion is located within the intergenic sequence between SPATA7 and its upstream gene KCNK10, the telomeric junction is located within the intronic sequence between exons 5 and 6 of SPATA7. Sequencing of the deletion junction showed that the deletion is accompanied by a small insertion of three extra nucleotides (TGG) at the deletion site.